Collaboration and Consortium Cracking the Code: Uncovering KIF5A – MND gene

DNA magnification glass pitchfork3‘Big data’ projects require detailed analysis of unimaginably large volumes of complex data. This is especially true in the realm of MND gene discovery when searching for MND-associated genes – where the greater the number of samples analysed, the greater the possibility of finding the relatively less frequently occurring genetic causes (known as ‘rare’ variants). Literally a needle in a haystack.

These discoveries are no less important, as each new discovery is highly significant and provides another piece of the puzzle in our understanding of the causes and avenues to target for potential treatments. A clear example of this is collecting and mining the data from tens of thousands of human ‘genomes’ to identify the genes responsible for MND. By working together, researchers can greatly increase their ability to tease out the difficult to find discoveries.Read More »